| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,158,559 | C→T | Q231* (CAG→TAG) | ptsG → | fused glucose‑specific PTS enzymes: IIB component/IIC component |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,158,559 | 0 | C | T | 100.0% | 33.6 / NA | 12 | Q231* (CAG→TAG) | ptsG | fused glucose‑specific PTS enzymes: IIB component/IIC component |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base T (6/6); total (6/6) | |||||||||||
CAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAA > NC_000913_3_hsa_tpiA/1158418‑1158695 | cAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGtttt < 1:333405/149‑1 (MQ=255) cAGAATCCGGTAGTTGGGTTTGGCATTTACGGTTGCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTcc < 1:49198/149‑1 (MQ=255) aCGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCg > 1:415998/1‑149 (MQ=255) aTCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACt > 1:172629/1‑149 (MQ=255) aCCGTTTGGGCTGCAACACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGt < 2:242554/149‑1 (MQ=255) ccGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGtt < 2:122290/149‑1 (MQ=255) tCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATGCGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCCGGTGACCCGACTACGGGTAAACTGTCTGGTGCCTTCCTGTTCAGACTGt > 1:205773/1‑149 (MQ=255) caTCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGc < 2:76844/149‑1 (MQ=255) tttCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTGTTTGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCGTCCTGTTCAACATGTACGGTCTGCCAGCTGCCGCAATTg > 2:90089/1‑149 (MQ=255) gAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTaa > 2:373255/1‑149 (MQ=255) cAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGaaa > 1:351868/1‑149 (MQ=255) aaCGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGaaaa < 2:163860/149‑1 (MQ=255) | CAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAA > NC_000913_3_hsa_tpiA/1158418‑1158695 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |